D38H (p.Asp38His) variant of SERPINC1 (Antithrombin-III)
D38H (p.Asp38His) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D38H (p.Asp38His) variant details
- p.Asp38His
- ESP rs145771113
- ExAC rs145771113
- TOPMed rs145771113
- gnomAD rs145771113
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.48
- CADD 24.10
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available